Evidence map›Paper›PMID 36085161›Full record

ArticleOrphanet journal of rare diseases2022

The role of exome sequencing in childhood interstitial or diffuse lung disease.

Suzanna E L Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, André Schultz, Thet Gayagay, Tony Roscioli and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Mastering genetics for your clinic: A step-by-step guide.The Journal of allergy and clinical immunology · 2025
    Review
  4. Review
  5. Observational
  6. Review
  7. Article
  8. Article
  9. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    Article
  10. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

Suzanna E L TempleDepartment of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia. suzanna.lindseytemple@health.nsw.gov.au.ORCID 0000-0002-8844-4292
Gladys HoSydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Bruce BennettsSydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Kirsten BoggsAustralian Genomics Health Alliance, Melbourne, VIC, Australia.
Nada VidicSchool of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia.
David MowatSchool of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia.
John ChristodoulouDisciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.
André SchultzWal-Yan Respiratory Research Centre, Telethon Kids Institute, University of Western Australia, Perth, Australia.
Thet GayagaySydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Tony RoscioliCentre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, NSW, Australia.
Ying ZhuRandwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.
Sebastian LunkeAustralian Genomics Health Alliance, Melbourne, VIC, Australia.
David ArmstrongDepartment of Paediatrics, Monash University, Clayton Rd, Clayton, VIC, Australia.
Joanne HarrisonUniversity of Melbourne, Melbourne, VIC, Australia.
Nitin KapurDepartment of Respiratory and Sleep Medicine, Queensland Children's Hospital, Brisbane, QLD, Australia.
Tim McDonaldThe Canberra Hospital, Garran, ACT, Australia.
Hiran SelvaduraiDisciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.
Andrew TaiPaediatric Respiratory and Sleep Department, Women's and Children's Hospital, Adelaide, SA, Australia.
Zornitza StarkAustralian Genomics Health Alliance, Melbourne, VIC, Australia.
Adam JaffeSchool of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundChildren's interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality. We assessed the diagnostic utility of using trio exome sequencing in chILD. We prospectively enrolled children meeting specified clinical criteria between 2016 and 2020 from 16 Australian hospitals. Exome sequencing was performed with analysis of an initial gene panel followed by trio exome analysis. A subset of critically ill infants underwent ultra-rapid trio exome sequencing as first-line test.

results36 patients [median (range) age 0.34 years (0.02-11.46); 11F] were recruited from multiple States and Territories. Five patients had clinically significant likely pathogenic/pathogenic variants (RARB, RPL15, CTCF, RFXANK, TBX4) and one patient had a variant of uncertain significance (VIP) suspected to contribute to their clinical phenotype, with VIP being a novel gene candidate.

conclusionsTrio exomes (6/36; 16.7%) had a better diagnostic rate than gene panel (1/36; 2.8%), due to the ability to consider a broader range of underlying conditions. However, the aetiology of chILD in most cases remained undetermined, likely reflecting the interplay between low penetrant genetic and environmental factors.

Indexed as

ExomeLung DiseasesAustraliaExome SequencingHospitalsHumansGeneticsInterstitial lung diseasePaediatric lung diseasePaediatricsRare lung diseases

Identifiers

PMID36085161
PMCPMC9463757

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.